ClinVar Miner

Submissions for variant NM_005461.5(MAFB):c.*2008T>A

gnomAD frequency: 0.10178  dbSNP: rs56049320
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000292875 SCV000433826 benign Multicentric carpo-tarsal osteolysis with or without nephropathy 2016-06-14 criteria provided, single submitter clinical testing

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